A novel mutation at position +11 in the intron following exon 10 of the tau gene in FTDP-17

Journal of Applied Genetics

Volumn 43, Issue 4, 2002, Pages 535-543

  Kowalska, Anna ^a,b   Hasegawa, Masato ^c   Miyamoto, Katsuichi ^b,d   Akiguchi, Ichiro ^d   Ikemoto, Akito ^e   Takahashi, Keikichi ^b   Araki, Wataru ^b   Tabira, Takeshi ^b  

^a INSTITUTE OF HUMAN GENETICS   (Poland)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^c TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^d KYOTO UNIVERSITY HOSPITAL   (Japan)

^e KYOTO UNIVERSITY   (Japan)

Author keywords

Alternative splicing; Exon trapping analysis; Frontotemporal dementia; FTDP 17; Microtubule associated tau protein; Mutation; Tau gene

Indexed keywords

MAPT PROTEIN, HUMAN; MICROTUBULE ASSOCIATED PROTEIN; TAU PROTEIN;

ANIMAL; ARTICLE; CELL STRAIN COS1; DEMENTIA; GENETICS; HUMAN; INTRON; MIDDLE AGED; MUTATION; PARKINSON DISEASE;

ANIMALS; COS CELLS; DEMENTIA; HUMANS; INTRONS; MICROTUBULE-ASSOCIATED PROTEINS; MIDDLE AGED; MUTATION; PARKINSON DISEASE; TAU PROTEINS;

EID: 0036051016     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. GOEDERT M., CROWTHER R.A. (1998). Tau mutations cause frontotemporal dementia. Neuron. 21: 955-958.
2. GROVER A., HOULDEN H., BAKER M., ADAMSON J., LEWIS J., PRIHAR G., PICKERING-BROWN S., DUFF K., HUTTON M. (1999). 5' splice site mutations in tau associated with inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10. J. Biol. Chem. 274: 15134-15143.
3. HONG M., ZHUKAREVA V., VOGELSBERG-RAGAGLIA V., WSZOLEK Z., REED L., MILLER B.I., GESCHWIND D., BIRD T.D., MCKEEL D., GOATE A., MORRIS J.C., WILHELMSEN K.C., SCHELLENBERG G.D., TROJANOWSKI J.Q., LEE V.M.Y. (1998). Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17. Science 282: 1914-1919.
4. HOULDEN H., BAKER M., ADAMSON J., GROVER A., WARING S., DICKSON D., LYNCH T., BOEVE B., PETERSEN R.C., PICKERING-BROWN S., OWEN F., NEARY D., CRAUFURD D., SNOWDEN J., MANN D., HUTTON M. (1999). Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia. Ann. Neurol. 46: 243-248.
5. HUTTON M., LENDON C.L., RIZZU P., BAKER M., FROELICH S., HOULDEN H., PICKERING-BROWN S., CHAKRAVERTY S., ISAACS A., GROVER A., HACKETT J., ADAMSON J., LINCOLN S., DICKSON D., DAVIES P. (1998). Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393: 702-705.
6. LYNCH T., SANO M., MARDER K.S., BELL K.L., FOSTER N.L., DEFENDINI R.F., SIMA A.A.F., KEOHANE C., NYGAARD T.G., FAHN S., MAYEUX R., ROWLAND L.P., WILHEMSEN K.C. (1994). Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex. Neurology 44: 1878-1884.
7. KOWALSKA A., ASADA T., ARIMA K., KUMAKIRI C., KOZUBSKI W., TAKAHASHI K., TABIRA T. (2001). Genetic analysis in patients with familial and sporadic frontotemporal dementia: two tau mutations in only familial cases and no association with apolipoprotein E4. Dement. Geriatr. Cogn. Disord. 12: 387-392.
8. MIYAMOTO K., KOWALSKA A., HASEGAWA M., TABIRA T., TAKAHASHI K., ARAKI W., AKIGUCHI I., IKEMOTO A. (2001). Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11-splice site in the tau gene. Ann. Neurol. 50: 117-120.
9. POORKAJ P., GROSSMAN M., STEINBART E., PAYAMI H., SADOVNICK A., NOCHLIN D., TABIRA T., TROJANOWSKI J.Q., BORSON S., GALASKO D., REICH S., QUINN B., SCHELLENBERG G., BIRD T.D. (2001). Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia. Arch. Neurol. 58(3): 383-387.
10. RIZZU P., VAN SWIETEN J.C., JOOSSE M., HASEGAWA M., STEVENS M., TIBBEN A., NIERMEIJER M.F., HILLEBRAND M., RAVID R., OOSTRA B.A., GOEDERT M., VAN DUIJN C.M., HEUTINK P. (1999). High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands.
11. SPILLANTINI M.G., MURRELL J.R., GOEDERT M., FARLOW M.R., KLUG A., GHETTI B. (1998). Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc. Natl. Acad. Sci USA 95: 7737-7741.
12. VARANI L., HASEGAWA M., SPILLANTINI M.G., SMITH M. J., MURRELL J.R., GHETTI B., KLUG A., GOEDERT M., VARANI G. (1999). Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17. Proc. Natl. Acad. Sci USA 96: 8229-8234.
13. WICKHAM C.L., BOYCE M., JOYNER M.U., SARSFIELD P., WILKINS B.S., JONES D.B., ELLARD S. (2000). Amplification of PCR products in excess of 600 base pairs using DNA extracted from decalcified, paraffin wax embedded bone marrow trephine biopsies. Mol. Pathol. 53: 19-23.
14. YASUDA M., TAKAMATSU J., D'SOUZA I., CROWTHER R.A., KAWAMATA T., HASEGAWA M., HASEGAWA H., SPILLANTINI M.G., TANIMUKAI S., POORKAJ P., VARANI L., VARANI G., IWATSUBO T., GOEDERT M., SCHELLENBERG G.D., TANAKA C. (2000). A novel mutation at position +12 in the intron following exon 10 of the tau gene in familial frontotemporal dementia (FTD-Kumamoto). Ann. Neurol. 47: 422-429.